Yoshihiko Nakazato

Revised guideline for the diagnosis and treatment of acquired idiopathic generalized anhidrosis in Japan

Acquired idiopathic generalized anhidrosis (AIGA) is characterized by an acquired impairment in total body sweating despite exposure to heat or exercise. Severe cases may result in heatstroke. Most cases of AIGA have been reported in Asia, especially in Japan. However, there is limited information on the epidemiology of this condition, and no diagnostic criteria or appropriate treatment options have been established. This guideline was developed to fill this gap. It contains information on the etiology, diagnosis, evaluation of disease severity and evidence‐based recommendations for the treatment of AIGA. Appropriate treatment according to disease severity may relieve the clinical manifestations and emotional distress experienced by patients with AIGA.

An adult case of cyclic vomiting syndrome successfully responding to valproic acid

Sirs: The pathophysiology of cyclic vomiting syndrome (CVS) has not yet been established, and treatment for CVS remains unsatisfactory [1, 2]. We herein report an adult case of CVS associated with vascular headache and consciousness disturbance. Valproic acid had a completely protective effect against the vomiting attacks in this patient. The efficacy of an anticonvulsant for CVS thus supported the existence of a nosological link between CVS, migraine, and epilepsy. A 48-year-old woman, with several attacks of vomiting during one hour, was admitted to our hospital seeking treatment for this symptom on December 10, 2005. Nausea and vomiting developed suddenly on the evening of December 9. Her symptoms included fever, headache and palpitations, but no vertigo or abdominal pain. The attack did not subside until the next day, and she visited to her family doctor and then was transferred to our hospital. Her first attack had appeared in August LETTER TO THE EDITORS

A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases

Diffuse leukoencephalopathy with spheroids (DLS) is a white matter neurodegenerative disease characterized by progressive cognitive decline and motor symptoms 1–6, and histologically, by axonal swellings (‘spheroids’) and loss of axons and myelin 1–3,5,7–11. It was originally described as a rare, hereditary, autosomal dominant disorder (hereditary DLS: HDLS) 2, but there have been reports on DLS without family history as well (sporadic DLS: SDLS) 6,12–22. In 2012, Rademakers et al. 9 identified 14 different mutations in the colony stimulating factor 1 receptor (CSF1R) gene, which are located in exons 12–22 and affect the tyrosine kinase domain of the protein, in 14 families with HDLS. Interestingly, this gene shares the same signalling pathway as TYROBP (DAP12) and TREM2, whose mutations are implicated in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL, also known as Nasu-Hakola disease) 23–25. PLOSL shares similar clinicopathological profiles with DLS, such as a progressive neuropsychiatric decline and leukoencephalopathy with spheroids 26,27. In this paper we describe the clinicopathological features of two cases of SDLS. In one of them, genetic analyses of CSF1R, TYROBP and TREM2 were conducted, and no mutations in these genes were identified.

QSART in idiopathic pure sudomotor failure

QSART (quantitative sudomotor axon reflex testing) was performed in a patient with idiopathic pure sudomotor failure. Generalized reduction in thermoregulatory sweating and complete absence of axon reflex sweating were observed, suggesting a deficit of sweat gland cholinergic synaptic transmission or receptors. QSART responded promptly to treatment. Putative pathophysiological mechanisms are discussed.

A case of idiopathic pure sudomotor failure associated with prolonged high levels of serum carcinoembryonic antigen

We report a case of idiopathic pure sudomotor failure (IPSF) in which serum carcinoembryonic antigen (CEA) levels elevated at onset, and remained high while anhidrosis lasted. We considered that changes in serum levels of CEA were related to the disease activity of IPSF.

Daily morning hemifacial spasm in a patient with cluster headache

According to the classification of the International Headache Society, cluster headache is a severe unilateral orbital, supraorbital or temporal pain lasting 15–180 min if untreated. It is usually associated with symptoms of autonomic nervous system dysfunction, including conjunctival afflux, dacryorrhoea, and ipsilateral sensation of nasal obstruction (1). Recently, autonomic crisis occurring alone and without headache has been reported under the classification of ‘cluster headache sine headache’ (2, 3). We present a man with a history of typical cluster headache, who developed daily morning hemifacial spasm without headache. After several episodes of daily headache, he experienced daily occurrence of acephalgic hemifacial spasm every morning, lasting 120 min. We consider the pathophysiology of this daily morning hemifacial spasm to be similar to that of cluster headache.

Evaluation of the Differences in the Effects of Antihypertensive Drugs on Blood Pressure Variability by 24-Hour Ambulatory Blood Pressure Monitoring in Chronic Cerebrovascular Disease

BACKGROUND It has been suggested that antihypertensive drug therapy is attributable to the lower blood pressure variability, we investigated the effects of 4 classes of antihypertensives on the blood pressure variability; in addition, we also compared the effects among 4 calcium channel blockers. METHODS We measured the 24-hour blood pressure variability in 309 patients with a history of cerebrovascular disease treated with angiotensin-converting enzyme inhibitor, angiotensin receptor blocker, β blocker, or calcium channel blocker. RESULTS The daytime blood pressure variability treated with β blockers (14.3 ± 3.1) was higher than that treated with an angiotensin receptor blockers (11.5 ± 3.1) or calcium channel blockers (12.6 ± 3.4) in patients with cerebrovascular disease (P < .05). In the analysis of the patient distribution of blood pressure variability, patients receiving β blockers occurred more frequently in the higher blood pressure variability (P = .0023). Treatment with angiotensin receptor blockers and cilnidipine, which blocks N-type calcium channels, was shown to be more frequently associated with the lower blood pressure variability (P = .0202 and .0467). The mean blood pressure of patients grouped by distribution of blood pressure variability was found to be independent to blood pressure variability, for any of the antihypertensive drugs or calcium channel blockers examined. CONCLUSIONS From the results, it is suggested that angiotensin receptor blocker and calcium channel blockers rather than β blockers may be more favorable for blood pressure management in patients with cerebrovascular disease. Among the calcium channel blockers, cilnidipine may be more favorable than other calcium channel blockers.

Bilateral thalamic glioma

An 80-year-old man presented with a 6-month history of daytime sleepiness. He had a 3-year history of tremor in the left fingers. He slept more than 9 hours during the night, but he always felt sleepy in the daytime. He had no abrupt sleep attacks, but he persistently napped for several hours or more in the afternoon. Consciousness was clear and neurologic examination was unremarkable except for tremor. Head CT showed low-density areas in the bilateral enlarged thalami (figure, A). T1-weighted MRI revealed bilateral thalamic enlargement with homogeneous low signal intensity and no contrast enhancement (figure, C and D). Both thalami showed high-signal intensity on T2-weighted images (figure, B). Histologic examination of a stereotaxic biopsy specimen identified fibrillary astrocytoma (grade II).

“Heart Appearance” Infarction of the Pons: A Case Report

“Heart appearance” on magnetic resonance imaging (MRI) is a unique presentation of bilateral medial medullary infarction. In contrast, “heart appearance” infarction of the pons has rarely been featured in the medical literature. In this paper, we present a case of “heart appearance” infarction of the pons with its MRI and magnetic resonance angiography (MRA) findings. The patient was an 87-year-old male who manifested with weakness in the four extremities. Later, bulbar palsy and tetraplegia became apparent, and he eventually was trapped in locked-in syndrome. Brain MRI disclosed a “heart appearance” lesion in the pons, which was high on diffusion-weighted image MRI and low on apparent diffusion coefficient map MRI. Brain MRA demonstrated that the basilar artery remained intact. A diagnosis of fresh, bilateral pontine infarction with a “heart appearance” was made. After the treatment he was transferred to another hospital for long-term care. This case suggests that bilateral ischemic involvement of the pons is possible even in the context of an intact basilar artery.

Isolated body lateropulsion caused by lower lateral medullary infarction

http://dx.doi.org/10.1016/j.ensci.2017.03.004 2405-6502/© 2017 The Authors. Published by Elsevier B.V. This is an open access article under ipsilateral body lateropulsion as an initial symptom of lower lateral medullary infarction and review the existing literature regarding isolated body lateropulsion (iBL) caused by lateral medullary infarction. A brief description on the Case 1 has been published in Japanese [2].